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SH2 Domain Containing Protein 1A (SH2D1A)

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IMD5; LYP; XLP; MTCP1; DSHP; XLPD; EBVS; SAP; Duncan disease SH2-protein; Lymphoproliferative Syndrome; Signaling lymphocytic activation molecule-associated protein

SH2 Domain Containing Protein 1A (SH2D1A)
CCC P694
HGNC 10820
MGI 1328352
PubMed 20926771
RGD 1562408
UniProt O60880
Wiki SH2D1A
SH2D1A plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant SH2 Domain Containing Protein 1A (SH2D1A) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to SH2 Domain Containing Protein 1A (SH2D1A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to SH2 Domain Containing Protein 1A (SH2D1A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for SH2 Domain Containing Protein 1A (SH2D1A) CLIA Kit Customized Service Offer
n/a ELISA Kit for SH2 Domain Containing Protein 1A (SH2D1A) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPP694Mu01 Recombinant SH2 Domain Containing Protein 1A (SH2D1A) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAP694Mu01 Polyclonal Antibody to SH2 Domain Containing Protein 1A (SH2D1A) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for SH2 Domain Containing Protein 1A (SH2D1A) CLIA Kit Customized Service Offer
n/a ELISA Kit for SH2 Domain Containing Protein 1A (SH2D1A) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant SH2 Domain Containing Protein 1A (SH2D1A) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to SH2 Domain Containing Protein 1A (SH2D1A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to SH2 Domain Containing Protein 1A (SH2D1A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for SH2 Domain Containing Protein 1A (SH2D1A) CLIA Kit Customized Service Offer
n/a ELISA Kit for SH2 Domain Containing Protein 1A (SH2D1A) ELISA Kit Customized Service Offer
  1. "Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene." Nat. Genet. 20:129-135(1998) [PubMed] [Europe PMC] [Abstract]
  2. "The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM."Nature 395:462-469(1998) [PubMed] [Europe PMC] [Abstract]
  3. "Decreased expression of signaling lymphocytic-activation molecule-associated protein (SAP) transcripts in T cells from patients with rheumatoid arthritis."Int. Immunol. 13:559-565(2001) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP."Blood 97:3867-3874(2001) [PubMed] [Europe PMC] [Abstract]
  8. "CD84 is up-regulated on a major population of human memory B cells and recruits the SH2 domain containing proteins SAP and EAT-2."Eur. J. Immunol. 32:1640-1649(2002) [PubMed] [Europe PMC] [Abstract]
  9. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition."Mol. Cell 4:555-561(1999) [PubMed] [Europe PMC] [Abstract]
  11. "A 'three-pronged' binding mechanism for the SAP/SH2D1A SH2 domain: structural basis and relevance to the XLP syndrome."EMBO J. 21:314-323(2002) [PubMed] [Europe PMC] [Abstract]
  12. "SAP couples Fyn to SLAM immune receptors."Nat. Cell Biol. 5:155-160(2003) [PubMed] [Europe PMC] [Abstract]
  13. "SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients."Hum. Genet. 105:501-505(1999) [PubMed] [Europe PMC] [Abstract]
  14. "Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease."Blood 96:3118-3125(2000) [PubMed] [Europe PMC] [Abstract]
  15. "Defective NK cell activation in X-linked lymphoproliferative disease."J. Immunol. 165:3549-3553(2000) [PubMed] [Europe PMC] [Abstract]
  16. "SH2D1A mutations in Japanese males with severe Epstein-Barr virus-associated illnesses."Blood 98:1268-1270(2001) [PubMed] [Europe PMC] [Abstract]
  17. "Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients."J. Biol. Chem. 276:36809-36816(2001) [PubMed] [Europe PMC] [Abstract]
  18. "Disease-causing SAP mutants are defective in ligand binding and protein folding."Biochemistry 42:14885-14892(2003) [PubMed] [Europe PMC] [Abstract]
  19. "Fatal hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection in a patient with a novel mutation in the signaling lymphocytic activation molecule-associated protein."Clin. Infect. Dis. 37:E136-E141(2003) [PubMed] [Europe PMC] [Abstract]
  20. "Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease."Hum. Mutat. 25:506-506(2005) [PubMed] [Europe PMC] [Abstract]
  21. "Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP."Int. Immunol. 18:1055-1065(2006) [PubMed] [Europe PMC] [Abstract]